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Case Reports
. 2024 Aug 7;29(15):102417.
doi: 10.1016/j.jaccas.2024.102417.

Acute Coronary Syndrome in a 9-Year-Old Girl With Homozygous Familial Hypercholesterolemia

Mishita Goel  1 , Snigdha Bhatia  2 , Christina Arand  3 , Irfan Shafi  1 , Neha Ahluwalia  2 , Peter Sassalos  2   4 , Mamdouh Al Ahmadi  2   4 , Luis Afonso  1 , Preetha L Balakrishnan  2
Affiliations
Case Reports

Acute Coronary Syndrome in a 9-Year-Old Girl With Homozygous Familial Hypercholesterolemia

Mishita Goel et al. JACC Case Rep. .

Abstract

Familial hypercholesterolemia (FH) is a prevalent and underrecognized disorder. A young girl with previously undiagnosed homozygous FH presented with acute coronary syndrome. Severe coronary ostial stenosis and severe supravalvular aortic stenosis from atheromatous plaque was discovered. This case highlights the importance of screening and timely diagnosis of FH.

Keywords: acute coronary syndrome; familial hypercholesterolemia; supravalvular aortic stenosis.

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Conflict of interest statement

Dr Balakrishnan has received an honorarium from MedPanel, Inc. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.

Figures

None
Graphical abstract
Figure 1
Figure 1
Pedigree
Figure 2
Figure 2
Electrocardiogram Electrocardiogram showing sinus rhythm with ST-segment depressions in leads V3 to V6 and nonspecific T-wave changes in inferior leads.
Figure 3
Figure 3
Transthoracic Echocardiogram Transthoracic echocardiogram images showing combined valvular and supravalvular aortic stenosis (arrow) (A) with a peak gradient 78 mm Hg and mean gradient 40 mm Hg (B).
Figure 4
Figure 4
Aortic Root Angiogram Aortic root angiogram showing severe left main ostial stenosis (arrow) and near-total occlusion at right coronary artery origin with supravalvar narrowing (X1).
Figure 5
Figure 5
Intraoperative Findings Intraoperative findings of large atheromatous plaque above the sinotubular junction of the aorta (arrow) causing severe supravalvar aortic stenosis.
See this image and copyright information in PMC

References

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